Early detection of PID is key to treatment, say experts at primary immune deficiency meet at SGPGIMS

Primary Immunodeficiency (PID) is a condition that demands attention and specialised testing for accurate diagnosis, said experts who assembled at the Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS) for the Seventh National Conference of Indian Society of Primary Immune Deficiency on Saturday.
PID, also referred to as inborn errors of immunity (IEI), constitutes a diverse group of over 500 potential disorders with significant implications for the immune system’s functionality. Typically, the symptoms of PID/IEI make their debut during childhood, although certain instances may first present themselves in adulthood.
These disorders disrupt the immune system’s ability to defend the body against pathogens, leaving individuals more prone to illnesses and complications. The severity and specific manifestations of PID/IEI can vary widely among affected individuals, leading to a spectrum of clinical presentations.
Prof Amita Agarwal, HoD, immunology, SGPGIMS, said, “The T-cell test, a relatively affordable diagnostic tool priced between ₹20 to 30, plays a crucial role in identifying PID. This test is not confined to the realm of specialists; general practitioners can also administer it, offering a valuable initial step in the diagnostic process.
“The need for T-cell testing becomes apparent when recurrent infections persist despite standard antibiotic treatments. In cases where admission is required due to a low lymphocyte count, specialists can use the T-cell test to confirm suspicions of PID.
“There is a pressing need for increased awareness, widespread testing, and continued commitment to address the complexities of PID to ensure better outcomes for those affected by this condition.”
This diagnostic approach was highlighted by Prof Agrawal and Prof Sudhir Gupta during a gathering at the Indian Society of PID convention.
Prof Gupta said, “To further confirm the diagnosis of PID, additional tests are often conducted. These tests collectively contribute to a comprehensive understanding of the patient’s immune system, aiding in accurate diagnosis and tailored treatment plans.”
Recognising the importance of PID diagnosis, the Foundation for PID America actively supports free testing for patients, with a particular focus on those facing financial constraints. This initiative underscores the commitment to ensure that individuals, especially those from economically disadvantaged backgrounds, have access to necessary diagnostic resources, said Dr Gupta.
“The Indian government’s inclusion of PID in the Rare Disease Policy signifies a step towards prioritising the treatment of this condition. This inclusion facilitates access to resources, making it more feasible for healthcare providers to address PID effectively,” he said.
Despite these efforts, there remains a significant gap in awareness and testing for PID. Each year, 25 to 30 new PID cases are diagnosed, but due to these gaps, an estimated 16,000 individuals in the country currently live with a PID diagnosis. This disparity highlights the urgent need for increased awareness campaigns and widespread testing to bridge the existing diagnostic gaps.
“Without timely and appropriate treatment, PID can have severe consequences. The untreated condition carries a daunting 50% mortality rate within 20 years of onset. This stark statistic emphasises the critical importance of early detection and intervention in improving outcomes for individuals with PID,” she said.